Variant #0000305552 (NC_000016.9:g.47495300G>A, PHKB(NM_000293.2):c.39G>A)

Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.47495300G>A
DNA change (hg38) g.47461389G>A
Published as PHKB(NM_000293.2):c.39G>A (p.W13*)
ISCN -
DB-ID PHKB_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00231 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHKB NM_000293.2 -/. - c.39G>A r.(?) p.(Trp13Ter)
ITFG1 NM_030790.3 -/. - c.-344C>T r.(?) p.(=)